Mitochondrial genome deletion aids in the identification of false- and true-negative prostate needle core biopsy specimens

Am J Clin Pathol. 2008 Jan;129(1):57-66. doi: 10.1309/UJJTH4HFEPWAQ78Q.

Abstract

We report the usefulness of a 3.4-kb mitochondrial genome deletion (3.4 mtdelta) for molecular definition of benign, malignant, and proximal to malignant (PTM) prostate needle biopsy specimens. The 3.4 mtdelta was identified through long-extension polymerase chain reaction (PCR) analysis of frozen prostate cancer samples. A quantitative PCR assay was developed to measure the levels of the 3.4 mtdelta in clinical samples. For normalization, amplifications of a nuclear target and total mitochondrial DNA were included. Cycle threshold data from these targets were used to calculate a score for each biopsy sample. In a pilot study of 38 benign, 29 malignant, and 41 PTM biopsy specimens, the difference between benign and malignant core biopsy specimens was well differentiated (P & .0001), with PTM indistinguishable from malignant samples (P = .833). Results of a larger study were identical. In comparison with histopathologic examination for benign and malignant samples, the sensitivity and specificity were 80% and 71%, respectively, and the area under a receiver operating characteristic (ROC) curve was 0.83 for the deletion. In a blinded external validation study, the sensitivity and specificity were 83% and 79%, and the area under the ROC curve was 0.87. The 3.4 mtdelta may be useful in defining malignant, benign, and PTM prostate tissues.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis*
  • Adenocarcinoma / genetics
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics
  • Biopsy, Needle / methods*
  • DNA, Mitochondrial / genetics*
  • DNA, Neoplasm / analysis
  • False Negative Reactions
  • Gene Deletion*
  • Genome, Mitochondrial*
  • Humans
  • Male
  • Middle Aged
  • Prostate / pathology
  • Prostatic Neoplasms / diagnosis*
  • Prostatic Neoplasms / genetics
  • ROC Curve

Substances

  • Biomarkers, Tumor
  • DNA, Mitochondrial
  • DNA, Neoplasm